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Q15031

- SYLM_HUMAN

UniProt

Q15031 - SYLM_HUMAN

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Protein

Probable leucine--tRNA ligase, mitochondrial

Gene

LARS2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Catalytic activityi

ATP + L-leucine + tRNA(Leu) = AMP + diphosphate + L-leucyl-tRNA(Leu).

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei642 – 6421ATPBy similarity

GO - Molecular functioni

  1. aminoacyl-tRNA editing activity Source: InterPro
  2. ATP binding Source: UniProtKB-KW
  3. leucine-tRNA ligase activity Source: UniProtKB-EC

GO - Biological processi

  1. gene expression Source: Reactome
  2. leucyl-tRNA aminoacylation Source: InterPro
  3. tRNA aminoacylation for protein translation Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Aminoacyl-tRNA synthetase, Ligase

Keywords - Biological processi

Protein biosynthesis

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi6.1.1.4. 2681.
ReactomeiREACT_15302. Mitochondrial tRNA aminoacylation.
SABIO-RKQ15031.

Names & Taxonomyi

Protein namesi
Recommended name:
Probable leucine--tRNA ligase, mitochondrial (EC:6.1.1.4)
Alternative name(s):
Leucyl-tRNA synthetase
Short name:
LeuRS
Gene namesi
Name:LARS2
Synonyms:KIAA0028
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:17095. LARS2.

Subcellular locationi

Mitochondrion matrix By similarity

GO - Cellular componenti

  1. mitochondrial matrix Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Perrault syndrome 4 (PRLTS4) [MIM:615300]: A sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti522 – 5221T → N in PRLTS4; reduced activity. 1 Publication
VAR_070094
Natural varianti629 – 6291T → M in PRLTS4; found in a compound heterozygote also carrying a null mutation; the mutant is functional in a yeast complementaion assay but might be insufficient as a heterozygote with a fully non-functional allele. 1 Publication
VAR_070095

Keywords - Diseasei

Deafness, Disease mutation

Organism-specific databases

MIMi615300. phenotype.
Orphaneti2855. Perrault syndrome.
PharmGKBiPA134982982.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini? – 903Probable leucine--tRNA ligase, mitochondrialPRO_0000035806
Transit peptidei1 – ?MitochondrionSequence Analysis

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei68 – 681N6-acetyllysineBy similarity
Modified residuei236 – 2361N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiQ15031.
PaxDbiQ15031.
PeptideAtlasiQ15031.
PRIDEiQ15031.

PTM databases

PhosphoSiteiQ15031.

Expressioni

Tissue specificityi

Ubiquitously expressed, but highest expression in tissues with high metabolic rates, such as skeletal muscle, heart, and kidney.1 Publication

Gene expression databases

BgeeiQ15031.
CleanExiHS_LARS2.
ExpressionAtlasiQ15031. baseline and differential.
GenevestigatoriQ15031.

Organism-specific databases

HPAiHPA035951.
HPA045450.

Interactioni

Protein-protein interaction databases

BioGridi116968. 8 interactions.
STRINGi9606.ENSP00000265537.

Structurei

3D structure databases

ProteinModelPortaliQ15031.
SMRiQ15031. Positions 53-901.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi92 – 10211"HIGH" regionAdd
BLAST
Motifi639 – 6435"KMSKS" region

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0495.
GeneTreeiENSGT00390000015114.
HOGENOMiHOG000200747.
HOVERGENiHBG017877.
InParanoidiQ15031.
KOiK01869.
OMAiHELEVYT.
OrthoDBiEOG754HNN.
PhylomeDBiQ15031.
TreeFamiTF105662.

Family and domain databases

Gene3Di1.10.730.10. 1 hit.
3.40.50.620. 3 hits.
3.90.740.10. 1 hit.
InterProiIPR001412. aa-tRNA-synth_I_CS.
IPR002300. aa-tRNA-synth_Ia.
IPR002302. Leu-tRNA-ligase.
IPR014729. Rossmann-like_a/b/a_fold.
IPR009080. tRNAsynth_1a_anticodon-bd.
IPR013155. V/L/I-tRNA-synth_anticodon-bd.
IPR009008. Val/Leu/Ile-tRNA-synth_edit.
[Graphical view]
PANTHERiPTHR11946:SF7. PTHR11946:SF7. 1 hit.
PfamiPF08264. Anticodon_1. 1 hit.
PF00133. tRNA-synt_1. 3 hits.
[Graphical view]
PRINTSiPR00985. TRNASYNTHLEU.
SUPFAMiSSF47323. SSF47323. 1 hit.
SSF50677. SSF50677. 1 hit.
TIGRFAMsiTIGR00396. leuS_bact. 1 hit.
PROSITEiPS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q15031 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MASVWQRLGF YASLLKRQLN GGPDVIKWER RVIPGCTRSI YSATGKWTKE
60 70 80 90 100
YTLQTRKDVE KWWHQRIKEQ ASKISEADKS KPKFYVLSMF PYPSGKLHMG
110 120 130 140 150
HVRVYTISDT IARFQKMRGM QVINPMGWDA FGLPAENAAV ERNLHPQSWT
160 170 180 190 200
QSNIKHMRKQ LDRLGLCFSW DREITTCLPD YYKWTQYLFI KLYEAGLAYQ
210 220 230 240 250
KEALVNWDPV DQTVLANEQV DEHGCSWRSG AKVEQKYLRQ WFIKTTAYAK
260 270 280 290 300
AMQDALADLP EWYGIKGMQA HWIGDCVGCH LDFTLKVHGQ ATGEKLTAYT
310 320 330 340 350
ATPEAIYGTS HVAISPSHRL LHGHSSLKEA LRMALVPGKD CLTPVMAVNM
360 370 380 390 400
LTQQEVPVVI LAKADLEGSL DSKIGIPSTS SEDTILAQTL GLAYSEVIET
410 420 430 440 450
LPDGTERLSS SAEFTGMTRQ DAFLALTQKA RGKRVGGDVT SDKLKDWLIS
460 470 480 490 500
RQRYWGTPIP IVHCPVCGPT PVPLEDLPVT LPNIASFTGK GGPPLAMASE
510 520 530 540 550
WVNCSCPRCK GAAKRETDTM DTFVDSAWYY FRYTDPHNPH SPFNTAVADY
560 570 580 590 600
WMPVDLYIGG KEHAVMHLFY ARFFSHFCHD QKMVKHREPF HKLLAQGLIK
610 620 630 640 650
GQTFRLPSGQ YLQREEVDLT GSVPVHAKTK EKLEVTWEKM SKSKHNGVDP
660 670 680 690 700
EEVVEQYGID TIRLYILFAA PPEKDILWDV KTDALPGVLR WQQRLWTLTT
710 720 730 740 750
RFIEARASGK SPQPQLLSNK EKAEARKLWE YKNSVISQVT THFTEDFSLN
760 770 780 790 800
SAISQLMGLS NALSQASQSV ILHSPEFEDA LCALMVMAAP LAPHVTSEIW
810 820 830 840 850
AGLALVPRKL CAHYTWDASV LLQAWPAVDP EFLQQPEVVQ MAVLINNKAC
860 870 880 890 900
GKIPVPQQVA RDQDKVHEFV LQSELGVRLL QGRSIKKSFL SPRTALINFL

VQD
Length:903
Mass (Da):101,976
Last modified:November 1, 1997 - v2
Checksum:iD9AC143125124F58
GO

Sequence cautioni

The sequence BAA04877.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti522 – 5221T → N in PRLTS4; reduced activity. 1 Publication
VAR_070094
Natural varianti629 – 6291T → M in PRLTS4; found in a compound heterozygote also carrying a null mutation; the mutant is functional in a yeast complementaion assay but might be insufficient as a heterozygote with a fully non-functional allele. 1 Publication
VAR_070095
Natural varianti727 – 7271K → N.
Corresponds to variant rs36054230 [ dbSNP | Ensembl ].
VAR_052638
Natural varianti831 – 8311E → D.
Corresponds to variant rs9827689 [ dbSNP | Ensembl ].
VAR_052639

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D21851 mRNA. Translation: BAA04877.2. Different initiation.
BC025989 mRNA. Translation: AAH25989.1.
CCDSiCCDS2728.1.
RefSeqiNP_056155.1. NM_015340.3.
XP_005265063.1. XM_005265006.1.
UniGeneiHs.526975.

Genome annotation databases

EnsembliENST00000265537; ENSP00000265537; ENSG00000011376.
ENST00000415258; ENSP00000408576; ENSG00000011376.
GeneIDi23395.
KEGGihsa:23395.
UCSCiuc003cop.1. human.

Polymorphism databases

DMDMi2501029.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
D21851 mRNA. Translation: BAA04877.2 . Different initiation.
BC025989 mRNA. Translation: AAH25989.1 .
CCDSi CCDS2728.1.
RefSeqi NP_056155.1. NM_015340.3.
XP_005265063.1. XM_005265006.1.
UniGenei Hs.526975.

3D structure databases

ProteinModelPortali Q15031.
SMRi Q15031. Positions 53-901.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 116968. 8 interactions.
STRINGi 9606.ENSP00000265537.

Chemistry

DrugBanki DB00149. L-Leucine.

PTM databases

PhosphoSitei Q15031.

Polymorphism databases

DMDMi 2501029.

Proteomic databases

MaxQBi Q15031.
PaxDbi Q15031.
PeptideAtlasi Q15031.
PRIDEi Q15031.

Protocols and materials databases

DNASUi 23395.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000265537 ; ENSP00000265537 ; ENSG00000011376 .
ENST00000415258 ; ENSP00000408576 ; ENSG00000011376 .
GeneIDi 23395.
KEGGi hsa:23395.
UCSCi uc003cop.1. human.

Organism-specific databases

CTDi 23395.
GeneCardsi GC03P045405.
HGNCi HGNC:17095. LARS2.
HPAi HPA035951.
HPA045450.
MIMi 604544. gene.
615300. phenotype.
neXtProti NX_Q15031.
Orphaneti 2855. Perrault syndrome.
PharmGKBi PA134982982.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0495.
GeneTreei ENSGT00390000015114.
HOGENOMi HOG000200747.
HOVERGENi HBG017877.
InParanoidi Q15031.
KOi K01869.
OMAi HELEVYT.
OrthoDBi EOG754HNN.
PhylomeDBi Q15031.
TreeFami TF105662.

Enzyme and pathway databases

BRENDAi 6.1.1.4. 2681.
Reactomei REACT_15302. Mitochondrial tRNA aminoacylation.
SABIO-RK Q15031.

Miscellaneous databases

GeneWikii LARS2.
GenomeRNAii 23395.
NextBioi 45533.
PROi Q15031.
SOURCEi Search...

Gene expression databases

Bgeei Q15031.
CleanExi HS_LARS2.
ExpressionAtlasi Q15031. baseline and differential.
Genevestigatori Q15031.

Family and domain databases

Gene3Di 1.10.730.10. 1 hit.
3.40.50.620. 3 hits.
3.90.740.10. 1 hit.
InterProi IPR001412. aa-tRNA-synth_I_CS.
IPR002300. aa-tRNA-synth_Ia.
IPR002302. Leu-tRNA-ligase.
IPR014729. Rossmann-like_a/b/a_fold.
IPR009080. tRNAsynth_1a_anticodon-bd.
IPR013155. V/L/I-tRNA-synth_anticodon-bd.
IPR009008. Val/Leu/Ile-tRNA-synth_edit.
[Graphical view ]
PANTHERi PTHR11946:SF7. PTHR11946:SF7. 1 hit.
Pfami PF08264. Anticodon_1. 1 hit.
PF00133. tRNA-synt_1. 3 hits.
[Graphical view ]
PRINTSi PR00985. TRNASYNTHLEU.
SUPFAMi SSF47323. SSF47323. 1 hit.
SSF50677. SSF50677. 1 hit.
TIGRFAMsi TIGR00396. leuS_bact. 1 hit.
PROSITEi PS00178. AA_TRNA_LIGASE_I. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1."
    Nomura N., Miyajima N., Sazuka T., Tanaka A., Kawarabayasi Y., Sato S., Nagase T., Seki N., Ishikawa K., Tabata S.
    DNA Res. 1:27-35(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Bone marrow.
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  3. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-236, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  4. "Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu(UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes."
    Li R., Guan M.X.
    Mol. Cell. Biol. 30:2147-2154(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  5. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome."
    Pierce S.B., Gersak K., Michaelson-Cohen R., Walsh T., Lee M.K., Malach D., Klevit R.E., King M.C., Levy-Lahad E.
    Am. J. Hum. Genet. 92:614-620(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PRLTS4 ASN-522 AND MET-629, CHARACTERIZATION OF VARIANTS PRLTS4 ASN-522 AND MET-629.

Entry informationi

Entry nameiSYLM_HUMAN
AccessioniPrimary (citable) accession number: Q15031
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 29, 2014
This is version 132 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Aminoacyl-tRNA synthetases
    List of aminoacyl-tRNA synthetase entries
  2. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3